Details for ELP3:c.564-2A>C,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
2798979328132276
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ELP3
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_001284220
CDNA CHANGE c.564-2A>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.764785Disease causing
DBSNP ID NA
1 combination linked to ELP3:c.564-2A>C, OLI943
1 disease linked to ELP3:c.564-2A>C, Amyotrophic lateral sclerosis
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